关键词: STX1B, 癫痫, 基因

Abstract: Clinical data of a family with STX1B gene mutation were collected from the Department of Neurology， Chengdu Women and Children's Central Hospital in January 2020. "STX1B" or "syntaxin 1B"both in Chinese and English were used as keywords to search in PUBMED， VIP， CNKI， and Wanfang databases (up to May 31， 2021). The results showed that the child was a 2-year-old boy who started with frequent seizures， which could be induced by fever. His mother and his brother had history of febrile seizures when they were young. The treatment with sodium valproate and oxcarbazepine was not effective at the beginning， and then oxcarbazepine was tapered off and topiramate was added and no seizures recurred. Whole exome sequencing of the fanily revealed a heterozygous missense mutation， c.697G > A (p.Glu233Lys)， in the STX1B gene， which was inherited from his mother， while his brother had no mutation at this site，and this variant had not been reported in the literature before. One Chinese article and 12 English articles were retrieved. There were various seizure types reported in the literature， including generalized tonic-clonic seizures， focal seizures， atonic seizures， and myoclonic atonic seizures. A total of 27 mutations and 3 cases of whole gene deletion were reported in the literature， including 13 missense mutations， 8 frameshift mutations， 5 nonsense mutations， and 1 small fragment insertion. It is concluded that STX1B genes are mainly missense mutations and frameshift mutations， and the clinical phenotype is heterogeneous. We describe a mutation that has not been reported before and it may respond well to topiramate.

Key words:  , STX1B, epilepsy, gene